D642Y (p.Asp642Tyr) variant of ATP7B (Copper-transporting ATPase 2)
D642Y (p.Asp642Tyr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D642Y (p.Asp642Tyr) variant details
- p.Asp642Tyr
- rs72552285
- ClinGen CA388027513
- cosmic curated COSV54435
- ClinVar RCV000631234
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.87
- MetaSVM 0.94
- CADD 29.50
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)